Canonical Allele Identifier: CA396376025
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940290C>G , CM000678.2:g.67940290C>G GRCh38
NC_000016.9:g.67974193C>G , CM000678.1:g.67974193C>G GRCh37
NC_000016.8:g.66531694C>G NCBI36
NG_009778.1:g.8823G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.937G>C MANE Select ENSP00000264005.5:p.Glu313Gln
ENST00000264005.9:c.937G>C ENSP00000264005.5:p.Glu313Gln
ENST00000570369.5:c.156-216G>C
ENST00000570980.1:c.721G>C ENSP00000464651.1:p.Glu241Gln
ENST00000573538.5:c.675G>C ENSP00000463220.1:n.675G>C
NM_000229.1:c.937G>C NP_000220.1:p.Glu313Gln
NM_000229.2:c.937G>C MANE Select NP_000220.1:p.Glu313Gln